Personal Genetics: An Intersection Between Science, Society, and Policy
Organised by the American Association for the Advancement of Science and Harvard University
Room 203, John B Hynes Veterans Memorial Convention Centre, 900 Boylston Street, Boston 02115, Massachusetts, USA
Saturday 16 February 2013
In the decade since the human genome was first sequenced, the cost of reading a human genome has dropped from around US $100,000,000 to around US $6,000 (1). In the year since the organisers began putting together the symposium, 'Personalised Genetics: An Intersection between science, society and policy', to discuss the broader implications of personal genetics, the target has shifted from the '$1000 genome' to the '$0 genome'.
This plummeting cost is making the benefits of genome sequencing more accessible. Already, exome sequencing - sequencing all the portions of a person's genome that encode proteins - has proved useful in the diagnosis of rare genetic disorders. But our readiness to deal with the social and policy implications is not moving quite so fast. As Mira Irons, chief of clinical programs in genetics at Boston Children's Hospital, described it: 'The train has left the station and we're all out there running after that train'.
The symposium was part of the annual meeting of the American Association for the Advancement of Science and was organised by a group of biomedical PhD students from Harvard University. They selected speakers from a wide variety of backgrounds to discuss how we can help our lagging social and regulatory frameworks catch up with that personal genetics train. The discussion was wide-ranging and thoughtful, though as is usual for this kind of event, many more questions were asked than answered.
For example, how can we ensure that people who have their genome sequenced are able to provide truly informed consent? Jonathan Gitlin, a policy analyst at the US National Human Genome Research Institute and a writer at Ars Technica, pointed out that doctors testing a patient for variants at a single gene might take 15-20 minutes to ensure that the patient understands the risks and benefits well enough to give informed consent. In contrast, the procedure for exome sequencing includes a crash course in genomics and takes 6-9 hours. This poses a considerable problem for large-scale adoption of clinical genomics.
How to bridge the huge knowledge gap between genomics experts and the public was another question addressed in the discussion. One answer was suggested by Ting Wu, professor of genetics at Harvard Medical School. Wu founded the Personal Genetics Education Project, which seeks to increase awareness about the ethical dimensions of personal genetics, primarily by developing discussion-based school lesson plans. Wu described these discussions as deeply engaging experiences for students.
Mira Irons suggested that genetics education also needs to be intensified for healthcare professionals. She recognised the clinical potential of genomics but cautioned that 'in our clinics every day we see one or two patients that have had a genetic test that has been misinterpreted'.
Other problems discussed included ethnic disparities in genomic research, the constraints of communicating scientific advances in the media, a shifting and uncertain regulatory framework, and the impossibility of guaranteeing privacy to people who have their genome sequenced.
Gitlin also touched on current difficulties in interpreting personal genomics data. An interesting demonstration of this was provided by Brian Naughton, the founding scientist at US direct-to-consumer genomics company 23andMe. Naughton's presentation included discussion of his own exome sequence. Although this was not the main point of his presentation, he could not make any particularly useful conclusions about his exome data in spite of his expertise and his access to the aggregate data of 200,000 customers of 23andMe.
The speaker with the broadest approach to the issues was Sheila Jasanoff, professor of science and technology studies at Harvard Kennedy School. Using an extended political metaphor involving the television drama Downton Abbey, Jasanoff described an idealised genomics revolution.
This revolution is the transition from an era of symptomatic patients/subjects in clinical settings to a post-genomics era of asymptomatic customers/partners in commercial settings. The goal of this revolution is to see the authority-dominated past give way to a future that empowers citizens with information and personalised therapy. However, Jasanoff warned of the many problems with this dream, such as the potential for abuses of power. She suggested that we consider a new 'bill of rights' for 'citizens caught up in a revolution that offers distant horizons'.
Though I doubt we will ever marshal enough consensus for a biomedical bill of rights, the rapid approach of those distant horizons makes it important that we keep looking for answers to all those unresolved questions.